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Isabelle Meunier

Showing results (71-80 of 148) with videos related to

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Human Mutation|October 21, 2018
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesChristel Vaché, Simona Torriano, Valérie Faugère, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?Marion Imbert-Bouteille, Marion Gauthier-Villars, Dominique Leroux, et al.
Genes|March 6, 2021
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1</i> Pathologic Variant in the French Leber Congenital Amaurosis CohortIsabelle Perrault, Sylvain Hanein, Xavier Gérard, et al.
Mitochondrion|May 23, 2021
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?Naig Gueguen, Julie Piarroux, Emmanuelle Sarzi, et al.
Stem Cell Research & Therapy|September 16, 2022
Retinoic acid delays initial photoreceptor differentiation and results in a highly structured mature retinal organoidCarla Sanjurjo-Soriano, Nejla Erkilic, Krishna Damodar, et al.
Ophthalmology Science|November 4, 2024
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with <i>Retinitis Pigmentosa GTPase Regulator</i>-Associated X-Linked Retinitis PigmentosaRobert E MacLaren, Jacque L Duncan, M Dominik Fischer, et al.
Genes|September 23, 2022
SPACR Encoded by <i>IMPG1</i> Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment EpitheliumGuillaume Olivier, Philippe Brabet, Nelly Pirot, et al.
Ophthalmology|August 3, 2014
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genesIsabelle Meunier, Gaël Manes, Béatrice Bocquet, et al.
European Journal of Medical Genetics|February 26, 2023
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephalyQuentin Sabbagh, Mylène Tharreau, Camille Cenni, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Pageof 15

Showing results (71-80 of 148) with videos related to

Sort By:
Pageof 15
Human Mutation|October 21, 2018
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesChristel Vaché, Simona Torriano, Valérie Faugère, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?Marion Imbert-Bouteille, Marion Gauthier-Villars, Dominique Leroux, et al.
Genes|March 6, 2021
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1</i> Pathologic Variant in the French Leber Congenital Amaurosis CohortIsabelle Perrault, Sylvain Hanein, Xavier Gérard, et al.
Mitochondrion|May 23, 2021
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?Naig Gueguen, Julie Piarroux, Emmanuelle Sarzi, et al.
Stem Cell Research & Therapy|September 16, 2022
Retinoic acid delays initial photoreceptor differentiation and results in a highly structured mature retinal organoidCarla Sanjurjo-Soriano, Nejla Erkilic, Krishna Damodar, et al.
Ophthalmology Science|November 4, 2024
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with <i>Retinitis Pigmentosa GTPase Regulator</i>-Associated X-Linked Retinitis PigmentosaRobert E MacLaren, Jacque L Duncan, M Dominik Fischer, et al.
Genes|September 23, 2022
SPACR Encoded by <i>IMPG1</i> Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment EpitheliumGuillaume Olivier, Philippe Brabet, Nelly Pirot, et al.
Ophthalmology|August 3, 2014
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genesIsabelle Meunier, Gaël Manes, Béatrice Bocquet, et al.
European Journal of Medical Genetics|February 26, 2023
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephalyQuentin Sabbagh, Mylène Tharreau, Camille Cenni, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Pageof 15